Results 191 to 200 of about 29,236 (313)

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Evaluate the forensic efficiency parameters of the D13S317 gene in closely related family members in Gondar town, Northwest Ethiopia. [PDF]

J Genet Eng Biotechnol
Begashew BA, Yeshanew TM, Sendeku W, Birhane N.   +3 more
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Population Genetic Data for 23 STR Loci of the Black Caribbean Ethnic Group in Honduras. [PDF]

Genes (Basel)
Zuniga A, Molina Y, Amaya K, Moya Z, Soriano P, Pineda D, Pinto Y, Garcia O, Zablah I.   +8 more
europepmc   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Pairwise Paternity Assignment With Forward-Backward Simulations: Refining CERVUS Using Trio-Based Likelihood and Locus-Specific Error Rates. [PDF]

Ecol Evol
Amiri Roudbar M, Mousavi SF, Akbarzadeh M, Brounts SH, Momen M.   +4 more
europepmc   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

Migration Thresholds Govern Allele Collapse Under Repeated Gene Flooding. [PDF]

Ecol Evol
Davinack AA.
europepmc   +1 more source

A Breed-Specific SNP Panel With Higher Theoretical Exclusion Power and Practical Equivalence to International Standards for Parentage Testing in Pura Raza Española Horses. [PDF]

Anim Genet
Laseca N, Molina A, Marshall T, González I, Poyato-Bonilla J, Valera M.   +5 more
europepmc   +1 more source

Perivitelline Membrane-Bound Sperm as a Source of Paternal Genomic DNA to Inform Breeding Male Marine Turtle Genetics and Demographics. [PDF]

Ecol Evol
Shamblin BM, Sanchez CL, Perry SM, Ceriani SA.   +3 more
europepmc   +1 more source